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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:asphyxiating thoracic dystrophy 4
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Accession:DOID:0110088 term browser browse the term
Definition:An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)
Synonyms:exact_synonym: ATD4;   SRTD4;   short-rib thoracic dysplasia 4 with or without polydactyly
 broad_synonym: TTC21B-related disorder
 primary_id: OMIM:613819


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asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      asphyxiating thoracic dystrophy 228
        asphyxiating thoracic dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              osteochondrodysplasia 860
                asphyxiating thoracic dystrophy 228
                  asphyxiating thoracic dystrophy 4 1
paths to the root